Mine Disruption Phenotype

Gene Info

  • Species:Mouse (Mus musculus)
  • GeneID:99412
  • Symbol:Golga2
  • Description:golgi autoantigen, golgin subfamily a, 2
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Gene ID Entry Entry Name Protein Name Type Information
99412 Q921M4 GOGA2_MOUSE Golgin subfamily A member 2 (130 kDa cis-Golgi matrix protein) (GM130) DISRUPTION PHENOTYPE Mice are born at the expected Mendelian rate and have normal weight at birth. However, they display strongly decreased growth during the following weeks and die between 15 and 35 days after birth. Mice display ataxia and motor coordination defects that worsen with increasing age. Mice with a neuron-specific gene disruption display normal overall brain architecture, but the size of the cerebellum is strongly reduced in adults. After the third week after birth, a progressive loss of Purkinje cell is observed, leading to cerebellar atrophy. Purkinje cells from mutant mice appear normal at 9 days after birth, but display a strong decrease of the size and arborization of dendrites, associated with impaired dendritic protein transport. Other neurons in the molecular or granule layer of the cerebellum are not affected. Mice with a neuron-specific gene disruption display decreased growth, but have a normal lifespan and have only mild motor coordination defects at three weeks after birth, but defects are obvious at 8 weeks after birth. {ECO:0000269|PubMed:28028212}.